Gene Summary

Name:
putative homeodomain transcription factor 1
Synonyms:
Phft

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal pancreas morphology Phtf1tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal uterus morphology Phtf1tm1b(KOMP)Wtsi HOM Early adult 0.00
hydrometra Phtf1tm1b(KOMP)Wtsi HOM Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (1 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 50% (1 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mesenteric adipose tissue  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 50% (1 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote Not available
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote Not available
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Prostate gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 50% (1 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.37% (2 of 547)
aorta 0.0%
blood 0.0%
bone marrow 0.0%
brain 0.72% (4 of 556)
brainstem 0.36% (2 of 557)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 553)
cecum 5.67% (20 of 353)
cerebellum 0.55% (3 of 546)
cerebral cortex 0.36% (2 of 555)
chest bone Unavailable
colon 16.15% (21 of 130)
diaphragm 0.0%
duodenum 3.2% (4 of 125)
epididymis 14.49% (20 of 138)
esophagus 1.57% (6 of 383)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.78% (1 of 129)
heart 0.36% (2 of 559)
hindlimb 0.0%
hippocampus 0.55% (3 of 544)
hypothalamus 0.36% (2 of 550)
ileum 14.84% (19 of 128)
jejunum 9.45% (12 of 127)
kidney 4.83% (27 of 559)
large intestine 5.25% (29 of 552)
liver 0.0%
lower urinary tract 0.18% (1 of 552)
lung 0.36% (2 of 550)
lymph node 0.18% (1 of 557)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.33% (1 of 306)
midbrain 0.0%
olfactory lobe 0.37% (2 of 545)
ovary 0.18% (1 of 560)
oviduct 0.0%
pancreas 0.91% (5 of 550)
parathyroid gland 0.19% (1 of 536)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.18% (1 of 548)
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 1.97% (11 of 558)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 557)
small intestine 5.4% (30 of 556)
spinal cord 0.54% (3 of 557)
spleen 0.55% (3 of 543)
stomach 3.78% (21 of 556)
stomach pyloric region 0.0%
striatum 0.55% (3 of 546)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.09% (6 of 550)
thymus 0.18% (1 of 551)
thyroid gland 3.1% (17 of 549)
tongue 4.03% (5 of 124)
trachea 0.54% (3 of 555)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.37% (2 of 541)
vagina 0.0%
vas deferens 4.1% (15 of 366)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

76 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Human diseases caused by Phtf1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Phtf1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Mucocutaneous Ulceration, Chronic
Vaginal mucosal ulceration OMIM:618287
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Hereditary Breast And Ovarian Cancer Syndrome
Neoplasm of the pancreas, Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer ORPHA:145
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Elevated circulating l... OMIM:273250
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Hematocolpos, Uterus didelphys, Partial vaginal septum OMIM:192050
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Dec... OMIM:614837
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Cli... OMIM:612964
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Leydig Cell Hypoplasia
Increased circulating gonadotropin level, Cryptorchidism, Abnormal external genitalia, Abnormal v... ORPHA:755
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Ovarian Dysgenesis 2
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Streak ovary OMIM:300510
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... ORPHA:168563
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube OMIM:158330
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... ORPHA:1916
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Perlman Syndrome
Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis ORPHA:2849
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... OMIM:619203
Hymen, Imperforate
Hematocolpos, Imperforate hymen, Hydrocolpos OMIM:237100
Complete Androgen Insensitivity Syndrome
Blind vagina, Elevated circulating luteinizing hormone level, Female external genitalia in indivi... ORPHA:99429
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... OMIM:612310
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Dec... OMIM:614841
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... OMIM:194072
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad... ORPHA:90797
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... OMIM:619665
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... OMIM:278850
Martinez-Frias Syndrome
Annular pancreas, Hypospadias, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Extrahepatic... OMIM:601346
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormality of ... ORPHA:2470
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... ORPHA:139507
Vaginal Atresia
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Cervicitis, Transverse vaginal septum, Ab... ORPHA:65681
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification OMIM:167800
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Tropical Pancreatitis
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Pancreatic calcification, P... ORPHA:103918
Lumbar Syndrome
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Hypopl... ORPHA:83628
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... OMIM:615710
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... OMIM:208540
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating gonadotropin level, Precocious puberty in females, Blind vagina, Adrenocort... ORPHA:90793
Satoyoshi Syndrome
Hypoplasia of the uterus, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ... ORPHA:3130
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula OMIM:617466
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Uterus didelphys, Septate vagina, Aplasia of the uterus, Aplasia of the vagina OMIM:146255
Perrault Syndrome 4
Increased circulating gonadotropin level, Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia... OMIM:615300
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification OMIM:608189
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the uterus, Ambiguous genitalia, female, Hypoplasia of the vagina, Long penis, Clit... OMIM:202010
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary ORPHA:247768
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Adrenoc... ORPHA:168558
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency OMIM:260370
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Bicornuate uterus, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of the epididymis, H... ORPHA:93111
Pancreatic Agenesis 2
Pancreatic hypoplasia OMIM:615935
Campomelia, Cumming Type
Polycystic liver disease, Polysplenia, Pancreatic cysts OMIM:211890
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Adrenoc... ORPHA:289548
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia, Par... ORPHA:2237
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperechogen... ORPHA:456312
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Micropenis, Hypogonadotropic h... ORPHA:432
Igg4-Related Submandibular Gland Disease
Prostatitis, Abnormal pancreas morphology, Sialadenitis, Abnormal salivary gland morphology, Abno... ORPHA:449432
46,Xy Sex Reversal 4
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... OMIM:154230
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Sialadenitis, Euthyroid goiter, Pancreatic fibrosis, Sclerosi... ORPHA:64744
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the uterus, Ambiguous genitalia, male, Elevated circulating follicle stimulating ho... ORPHA:90796
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Increased circulating gonadotropin level, Enlarged polycystic ovaries, ... ORPHA:785
Kennerknecht syndrome
Agonadism, Hypoplasia of the uterus OMIM:600908
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Popliteal Pterygium Syndrome
Hypoplasia of the uterus, Bifid scrotum, Small scrotum, Hypoplasia of the vagina, Cryptorchidism,... OMIM:119500
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Ambiguous genitalia OMIM:615503
Oeis Complex
Labial hypoplasia, Ambiguous genitalia, female, Vesicovaginal fistula, Ambiguous genitalia, male,... OMIM:258040
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Shawl scrotum, Hepatic steatosis OMIM:616263
Meckel Syndrome
Urethral atresia, Male pseudohermaphroditism, Pancreatic fibrosis, Accessory spleen, Congenital h... ORPHA:564
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Papillary cystadenoma of the epididymis, Pheochromocytoma, Hepatic hema... OMIM:193300
Aceruloplasminemia
Abnormal pancreas morphology, Elevated hepatic iron concentration ORPHA:48818
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Aplasia of the vagina, Urethral atresia, Absent external genitalia OMIM:271520
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia, Hepatic fibrosis OMIM:619879
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Hypoplasia of the uterus, Bicornuate uterus, Atretic vas defer... OMIM:137920
Feingold Syndrome
Annular pancreas, Abnormality of the spleen ORPHA:1305
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hypoplasia of the... OMIM:609441
Jacobsen Syndrome
Annular pancreas, Labial hypoplasia, Hypospadias, Clitoral hypoplasia, Cryptorchidism OMIM:147791
Pontocerebellar Hypoplasia Type 7
Micropenis, Gonadal dysgenesis, Absent penis, Ambiguous genitalia, Abnormal scrotal rugation, Cli... ORPHA:284339
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic cysts, Portal hypertension, Pancreatic c... OMIM:263200
Nephronophthisis 13
Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts OMIM:614377
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Supernumerary nipple, Abnormal reproductive system morphology ORPHA:1521
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Hepatic fibrosis, Bile duct proliferation, Jaundic... OMIM:208500
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Micropenis, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadi... OMIM:241080
Bohring-Opitz Syndrome
Hyperechogenic pancreas, Supernumerary nipple OMIM:605039
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Abnormal ex... ORPHA:90794
Acrocephalopolydactylous Dysplasia
Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Hepatomegaly OMIM:200995
Glycogen Storage Disease Ib
Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma OMIM:232220
Limb-Mammary Syndrome
Absent nipple, Bilateral breast hypoplasia, Hypoplastic nipples, Breast aplasia, Aplasia of the u... ORPHA:69085
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly OMIM:617941
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Ambiguous genitalia, Hepatic fibrosis, Micropenis OMIM:263520
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic cyst, Hepatic ... OMIM:610199
Meckel Syndrome, Type 7
Hepatosplenomegaly, Cholestasis, Portal hypertension, Bile duct proliferation, Pancreatic cysts, ... OMIM:267010
Chromosome 17Q12 Deletion Syndrome
Ovarian cyst, Unicornuate uterus, Urethral stenosis, Aplasia of the uterus, Aplasia of the vagina... OMIM:614527
17Q12 Microdeletion Syndrome
Pancreatic aplasia, Cryptorchidism, Shawl scrotum ORPHA:261265
Phocomelia, Schinzel Type
Aplasia of the uterus, Cryptorchidism, Hypoplasia of penis ORPHA:2879
Atelosteogenesis Type I
Abnormal pancreatic duct morphology ORPHA:1190
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Absent gallbladder, Asplenia ORPHA:210122
Coffin-Siris Syndrome 9
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test OMIM:615866
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Bicornuate uterus, Multilobulated spleen, Hypoplastic spleen, Cryptorch... OMIM:601186
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Annular pancreas, Cryptorchidism, Micropenis OMIM:227646
Fryns Syndrome
Bicornuate uterus, Bifid scrotum, Hypospadias, Ectopic pancreatic tissue, Shawl scrotum, Cryptorc... OMIM:229850
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Micropenis, Stre... ORPHA:3464
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, Hepatoblastoma, Ps... ORPHA:116
Feingold Syndrome 1
Annular pancreas, Accessory spleen, Polysplenia, Asplenia OMIM:164280
Myoectodermal Gonadal Dysgenesis Syndrome
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Accessory spleen, Gonad... OMIM:618419
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Hypoplasia of the uterus OMIM:110100
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas OMIM:618162
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Cryptorchidism, Hypogonadism OMIM:268400
Trisomy 8P
Aplasia/Hypoplasia of the gallbladder, Annular pancreas, Cryptorchidism, Micropenis ORPHA:264450
Pearson Syndrome
Hypoparathyroidism, Exocrine pancreatic insufficiency, Hepatomegaly, Decreased response to growth... ORPHA:699
Distal Monosomy 12Q
Annular pancreas, Pituitary adenoma, Micropenis, Biliary atresia, Unilateral cryptorchidism ORPHA:96149
Cardiac-Urogenital Syndrome
Bifid scrotum, Micropenis, Unilateral cryptorchidism, Hepatopulmonary fusion, Accessory spleen, A... OMIM:618280
Pearson Marrow-Pancreas Syndrome
Pancreatic fibrosis, Exocrine pancreatic insufficiency, Hepatomegaly, Macronodular cirrhosis OMIM:557000
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Hypospadias, Cryptorchidism OMIM:616975
Exstrophy-Epispadias Complex
Cystocele, Bifid scrotum, Bifid uterus, Absent penis, Bifid penis, Penoscrotal transposition, Epi... ORPHA:322
1P36 Deletion Syndrome
Annular pancreas, Hypoplasia of penis, Hypospadias, Abnormality of the spleen, Abnormality of fem... ORPHA:1606
Fanconi Anemia, Complementation Group L
Aplasia of the uterus, Micropenis OMIM:614083
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Hepatosplenomegaly, Pancreatic cysts OMIM:274000
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Hypoplasia of the uterus, Micropenis, Hypospadias, Ovotestis, Clitoral hypertrophy OMIM:309801
Jacobsen Syndrome
Annular pancreas, Cryptorchidism ORPHA:2308
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Hypospadias, Bicornuate uterus, Asplenia OMIM:265380
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Annular pancreas ORPHA:488642
Schinzel-Giedion Syndrome
Annular pancreas, Hepatoblastoma, Micropenis, Streak ovary, Hypospadias ORPHA:798
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Hypospadias, Bifid uterus, Accessory spleen, Adrenal gland dysgenesis OMIM:236680
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas ORPHA:97297
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating lute... ORPHA:572333
Ehlers-Danlos Syndrome, Vascular Type
Uterine prolapse, Uterine rupture, Cystocele, Cervical insufficiency, Cryptorchidism OMIM:130050
Townes-Brocks Syndrome 1
Bifid scrotum, Hypospadias, Bifid uterus, Rectoperineal fistula, Urethral valve, Cryptorchidism, ... OMIM:107480
Wolf-Hirschhorn Syndrome
Precocious puberty, Hypospadias, Accessory spleen, Biliary tract abnormality, Aplasia of the uter... OMIM:194190
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Anteriorly displaced genitalia, Hypospadias, Hypoplastic nipples, Aplasia of the uterus, Cryptorc... OMIM:276820
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Coffin-Siris Syndrome 1
Aplasia of the uterus, Hypospadias, Cryptorchidism, Clitoral hypertrophy OMIM:135900
Okamoto Syndrome
Bifid uterus, Splenomegaly ORPHA:2729
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Peters-Plus Syndrome
Hypoplasia of the uterus, Hypospadias, Hypoplasia of the vagina, Clitoral hypoplasia, Biliary tra... OMIM:261540
Norrie Disease
Cryptorchidism, Uterine rupture ORPHA:649
Vascular Ehlers-Danlos Syndrome
Uterine prolapse, Cystocele, Uterine rupture, Hypospadias, Cryptorchidism ORPHA:286
Peters Plus Syndrome
Hypoplasia of the uterus, Hypospadias, Anterior hypopituitarism, Clitoral hypoplasia, Cryptorchidism ORPHA:709
Pallister-Killian Syndrome
Labial hypoplasia, Supernumerary nipple, Hypospadias, Aplasia of the upper vagina, Hypoplastic la... OMIM:601803

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Phtf1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Phtf1.

No publications found that use IMPC mice or data for Phtf1.

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MGI Allele Allele Type Produced
Phtf1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Phtf1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Phtf1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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